Abstract
Intimal sarcomas are rare and histologically heterogeneous tumors, commonly arising from the pulmonary arteries. They have remained challenging to treat. Few studies in the literature study the genomics of this cancer. Identifying targetable alterations is an important step in advancing the treatment of intimal sarcomas. Using data from the American Association for Cancer Research Project Genomics Evidence Neoplasia Information Exchange (AACR GENIE) database, we cataloged genetic alterations and assessed their clinical utility from thirteen patients with intimal sarcoma. Notable copy number alterations included amplification in MDM2, CDK4, PDGFRA, and NOTCH2, as well as copy number losses in CDKN2A and CDKN2B. Actionable alterations included mutations in ATM/ATR, PTCH1, and PDGFRB. Moreover, genomic rearrangement events, specifically PDE4DIP-NOTCH2 and MRPS30-ARID2 fusions were identified. Co-occurring alterations included a NOTCH2 copy number gain in the PDE4DIP-NOTCH2 fusion positive tumor and PDGFRB mutations in both fusion-positive cases. Our study suggests that PDGFRB may be relevant in the tumorigenesis process. Including genomic profiling in the management of intimal sarcoma and potential enrollment in targeted therapy trials is warranted.
Highlights
Intimal sarcomas (IS) are rare mesenchymal tumors that involve the innermost layer of large vessels, most commonly seen in pulmonary arteries [1,2,3,4]
Among the 13 patients analyzed with intimal sarcoma, the median age was 46; eight were female (61%)
Genomics were performed on tissue from the primary tumor in ten patients and metastatic site in three patients
Summary
Intimal sarcomas (IS) are rare mesenchymal tumors that involve the innermost layer of large vessels, most commonly seen in pulmonary arteries [1,2,3,4]. Diagnosing this sarcoma has proved challenging despite the criteria set by the World Health Organization (WHO), as it is largely undifferentiated and histologically variable even within the same host [1,2,5,6,7]. The challenging dynamic on a clinical and histologic level necessitates a comprehensive genetic approach to diagnose and develop targeted treatment plans
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